Ontology highlight
ABSTRACT:
SUBMITTER: Brownstein CA
PROVIDER: S-EPMC4833544 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Brownstein Catherine A CA Kleiman Robin J RJ Engle Elizabeth C EC Towne Meghan C MC D'Angelo Eugene J EJ Yu Timothy W TW Beggs Alan H AH Picker Jonathan J Fogler Jason M JM Carroll Devon D Schmitt Rachel C O RC Wolff Robert R RR Shen Yiping Y Lip Va V Bilguvar Kaya K Kim April A Tembulkar Sahil S O'Donnell Kyle K Gonzalez-Heydrich Joseph J
American journal of medical genetics. Part A 20160216 5
Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here, we report on two children with CNVs in 16p13.11 that developed psychosis before the age of 7. The genotype and neuropsychiatric abnormalities of these patients highlight several overlapping genes that have possible mechanistic relevance to pathways ...[more]